C9ORF72 GGGGCC Expanded Repeats Produce Splicing Dysregulation which Correlates with Disease Severity in Amyotrophic Lateral Sclerosis

OBJECTIVE: An intronic GGGGCC-repeat expansion of C9ORF72 is the most common genetic variant of amyotrophic lateral sclerosis (ALS) and frontotemporal dementia. The mechanism of neurodegeneration is unknown, but a direct effect on RNA processing mediated by RNA foci transcribed from the repeat seque...

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Detalles Bibliográficos
Publicado en:PLoS One
Main Authors: Cooper-Knock, Johnathan, Bury, Joanna J., Heath, Paul R, Wyles, Matthew, Higginbottom, Adrian, Gelsthorpe, Catherine, Highley, J. Robin, Hautbergue, Guillaume, Rattray, Magnus, Kirby, Janine, Shaw, Pamela J.
Formato: Artigo
Idioma:Inglês
Publicado: Public Library of Science 2015
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Research Article
Acceso en liña:https://ncbi.nlm.nih.gov/pmc/articles/PMC4446097/
https://ncbi.nlm.nih.gov/pubmed/26016851
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1371/journal.pone.0127376
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